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Full text of "Dr. Mohamed El-Naggar..www.1aim.net"

I 



. 



Spot Diagnosis of 
the most common 
Pediatric Diseases 



yMf"< 



*-\v** 



Mohammed EI-Naggar 



Short 
Atlas in 
Pediatrics 



Spot Diagnosis of 
the most common 
Pediatric Diseases 






Mohammed El-Naggar 

Professor of Pediatrics and 
Pediatric Intensive Care 
Faculty of Medicine, Cairo University 
Cairo, Egypt 



• First published 2005 

• Second edition 2008 






Mohammed EI-Naggar 

25 Dokki Street, Cairo, Egypt 
E-mail; mrnaggar45@hotmail.coni 






Publisher: University Book Center 

8 Soliman Al-Halaby Street, Cairo. 
Tel.: 5774881. 



Printed in Egypt by 

Al-Ahram Commercial Press, Kalyoub. 



All rights reserved 
No part of this book may be reproduced 
in any form without written permission 
from the author. 



National library legal deposit data 
Mohammed EI-Naggar 
Short Atlas in Pediatrics 



Y..£ /t.r.-l.!^!^ 



I.S.B.N. 977 - 203 - 2 17 - I J ja J| ^1 






Preface 

Visual recognition of clinical signs is extremely important in 
clinical diagnosis. Visual memory is strong and long lasting, and 
one image is probably more effective than several pages. 

In this short atlas, the most important clinical signs are collected 
in 8 chapters and in around 200 new images. With each image, 
description of the relevant findings and the important criteria for 
diagnosis arc included 

Some important chapters as chest and cardiac diseases arc 
intentionally omitted because diagnosis of these diseases depends 
mainly on hearing and not seeing. 

In this short book every sincere effort has been made to make it 
as simple as possible and I hope it can be useful for medical 
students and young pediatricians. 

Mohammed El-Naggar 
2005 



* . 







Contents 



1. NEWBORN 

1. Skin color variations 2 

• Normal pinkish appearance 2 

• Reddish color of premature 2 

• Cutis marmorata ,..,. 2 

2. Neonatal jaundice 3 

• Physiological jaundice 3 

• Neonatal cholestasis 3 

3. Common skin lesions 4 

• Milia 4 

• Infantile eczema........ 4 

• Cradle cap 4 

• Erythema toxicum 5 

• Napkin dermatitis 5 

• Mongolian spots 5 

4. Common superficial infections.. 6 

• Impetigo 6 

• Monilial stomatitis,.. ......6 

• Monilial napkin dermatitis 6 

5. Common umbilical lesions 7 

• Umbilical sepsis 7 

• Umbilical granuloma 7 

• Umbilical hernia 7 

6. Vascular disorders 8 

• Salmon patch , 8 

• Port-wine stain ...8 

• Hemangioma 9 

7. Congenital anomalies 10 

• Cleft lip and palate 10 

• Meningomyelocele... 10 

• Ambiguous genitalia. 10 

• Talipes equino varus , 1 1 

• Congenita I hip disl ocati on II 

• Undescended testes... 12 

• Hydrocele 12 

• Inguinal hernia 12 

8. Birth injuries 13 

• Caput succedaneum 13 



• Cephalhematoma .13 

• Erb's palsy 13 

9- Abnormal birth weight. 14 

• Premature baby....... , 14 

• Intrauterine growth retardation ... .14 

• Infant ol diabetic mother 14 

10, Chromosomal syndromes... 15 

• Trisomy 21 , 15 

• Trisomy 18 , 16 

• Trisomy 13 17 

• Turner syndrome 18 

2. NUTRITIONAL DISORDERS 

1. Marasmus 20 

2. Kwashiorkor 21 

3. Rickets 22 

3. INFECTIONS 

1. Scarlet fever 24 

2. Measles..... 25 

3. -German measles 26 

4. Roseola infantum 27 

5. Chiekenpox 28 

6. Herpes simplex 30 

7. Herpes zoster... „ 31 

8. Superficial bacterial infections , .32 

9. Superficial fungal infections .... .13 
10. Mumps ....34 

4. NONINFECTIOUS SKIN LESIONS 

1. Urticaria 36 

2. Papular urticaria 37 

3. Atopic dermatitis 38 

4. Seborrheic dermatitis 39 

5. Erythema multiforme minor 40 

6. Erythema multiforme major 41 

7. Kawasaki disease 42 

8. SLE and dermatomvositis 43 

9. Sweat rash , , 44 



Contents 



.13 
13 

14 

14 

.14 

14 

15 

15 

.16 

17 



20 

.21 
22 



24 
.25 
26 

27 
.28 
30 
31 
.32 
.33 
.34 

DNS 

... 36 

... 37 
....38 

... 39 

... 40 

... 41 

... 42 

... 43 

... 44 






5. NEUROLOGICAL DISORDERS 

1. Small and large head 46 

• Familial microcephaly 46 

• Congen ital hy d rocepha 1 us 46 

• Hydranencephaly 46 

2. Floppy infant... 47 

3. Cerebral palsy 48 

4. Duchenne muscular dystrophy ........ 49 

5. Neurofibromatosis 50 

6. Tuberous sclerosis. 51 

7. Sturge Weber syndrome 52 

6, DIGESTIVE AND RENAL 
DISORDERS 

1. Painful oral lesions 54 

• Mondial stomatitis 54 

• Herpetic gingivostomatitis 54 

• Herpangina 54 

• Hand foot and mouth disease 55 

• Aphthous ulcers 55 

• Geographic tongue 55 



2. Diarrheal dehydration 56 

3. Viral hepatitis 57 

4. Hepatosplenomegaly 58 

5. Veno-oeclusive disease...... 59 

6. Nephrotic syndrome . 60 

7. HEMATOLOGICAL DISORDERS 

1 . Beta thalassemia major (Cooley's 
Anemia). 62 

2. Idiopathic thrombocytopenic 
Purpura (ITP) 63 

3. Disseminated intra vascular 
coagulation (D1C).. ,64 

4. Henoch-Sehonlein purpura 65 

5. Hemophilia......... 66 

8. ENDOCRINAL DISORDERS 

1. Ambiguous genitalia 68 

2 Hypothyroidism 69 

3. Short stature ..70 

4. Precocious puberty 72 




Ml 








i 



v 



* 



Characteristic Face 



— — •— ■ 




Trisomy 21 

(Mongoloid features) 




Microcephaly 

(Camel head) 






Trisomy 13 

(Coarse features) 




Hydrocephalus 

(Largje head, sun set eye sign) 




Marasmus Kwashiorkor 

(Senile or monkey face) (Facial edema, hair changes) 





Cooley's anemia 

(Mongoloid features) 



Nephrotic syndrome 

(Edematous face) 



Cretinism 

(Coarse features) 




Hydranencephaly 

(Huge large head) 




Dehydration 

(Sunken eyes) 




Gushing syndrome 

(Moon face) 







NEWBORN 



1. Skin color variations. 

2. Neonatal jaundice. 

3. Common skin lesions. 

4. Common superficial infections 

5. Common umbilical lesions. 

6. Vascular disorders. 

7. Congenital anomalies. 

8. Birth injuries. 

9. Abnormal birth weight. 
10. Chromosomal syndromes. 



i 



1. Skin Color Variations 



Normal pinkish appearance 

The color of the normal newborn 
is reddish at birth and it changes 
to pink within a day or two. 

However, the pink color at rest 
may be transformed to a deep 
red on crying. 




Reddish color of premature 

The color of the premature baby 
is deep pink to red. In severe 
prematurity (as opposite figure), 
the color is deep red. Note also 
the small size (compared to the 
examiner's hand) and the 
relatively large head. 




Cutis marmorata 

Cutis marmorata is a violaceuos or 
blue mottling of the skin that occurs 
when the infant is exposed to low 
icmpemture (as during bathing or 
changing). This lacy reticulated 
pattern appears over most of the 
body surface. It is an accentuated 
vasomotor response that disappears 
with age. 







2. Neonatal Jaundice 



Physiological jaundice 

Physiological jaundice is a very 
common condition that occurs in up 
to 40% of normal newborns. It 
usually appears on the third day and 
remains for less than a week. In 
most eases, the bilirubin level is quite 
below the critical level. 




Phototherapy 

Whjen jaundice is more severe and 
bilirubin level is near to critical value 
(i.e. above 15 mg/dl), phototherapy 
for few or several days is useful in 
lowering bilirubin level. Note the eye 
cover to protect the eyes. 




Neonatal cholestasis 



It is a condition characterized by 
persistent jaundice, hepatomegaly 
and pale clay colored stool. 

Neonatal hepatitis and extrahepatic 
biliary atresia are the 2 main causes 
r ; arly differentiation between these 
2 conditions (by Hida scan and liver 
biopsy) is important because in biliary 
a I resin, early surgical correction is 
indicated (Kasai operation). 




3. Common Skin Lesions 



Milia 

They are tiny sebaceous retention 
cysts scattered over the face, mainly 
on the nose and around it. They appear 
as whitish opalescent pinhead-sized 
spots that can be felt with the finger. 
It usually disappears within few 
weeks and no treatment is required ' 



■ 



■ + 




Infantile eczema 

It is a form of atopic dermatitis that 
mostly starts in infancy. It mainly 
involves the face (cheeks) but scalp 
and extensor surface of extremities 
may be also affected. The lesions 
are intensely pruritic erythematous 
papules with scaling and roughening 
of the skin. It responds to topical 
steroids but the lesion has a recurrent 
nature. 







Cradle cap 

1 1 is a form of seborrheic dermatitis 
that may start during the neonatal 
period. The scalp is the mainly 
involved site where diffuse or focal 
scaling and crusting occur (cradle cap), 
The lesions may involve the face. 
i etroLturiciilar area and diaper area. 
The condition responds to topical 
Steroids. 




Common Skin Lesions 



* 



"1 






Erythema toxicum 

It is a very common lesion that 
occurs in 50% of newborns during 
the first few days after birth. The 
lesions are firm yellow white 
papules or pustules (1-2 mm) with 
surrounding erythematous flare. 
The condition is benign and usually 
disappears over few days. The cause 
is unknown. 



Diaper (Napkin) dermatitis 

Erythematous diaper area due to 
prolonged contact with urine and 
stool. The lesion involves mainly 
the convex surfaces of buttocks, 
medial side of thighs and genital 
area but groin creases are usually 
spared. Secondary fungal infection 
(monilia) is common (see also 
minilial napkin dermatitis). 



Mongolian spots 

These are blue macular lesions 
that occur most commonly in 
the presacral area. They may be 
solitary or multiple and usually 
involve large areas. These lesions 
usually fade during the first 2 years. 




4. Common Superficial Infections 



Bullous impetigo 

It is a common superficial infection 
in infants and young children caused 
staphylococcus aureus. It causes 
flaccid transparent bullae that mainly 
occur in diaper area and trunk. The 
bullae can easily rupture leaving a 
narrow rim at the edge of the moist 
lesion. Oral antibiotic therapy may 
be needed in extensive lesions. 



• * 




Oral moniliasis 

It is an acute infection of oral cavity 
caused by Candida albicans. It is 
most common in neonatal period 
and early infancy. It is characterized 
by white flaky plaques covering all 
or part of the tongue, gingiva and 
oral mucosa. These plaques when 
removed leave a bright intlamed 
base. The condition usually subsides 
within one week of effective therapy 
with oral nystatin or miconazole. 



jj i 




^ 




■V 



Monilial napkin dermatitis 

It usuafty follows contact dermatitis. 
It is characterized by intense fiery 
red erythema with sharp edge, 
which may extend to involve the 
whole napkin area and rises on the 
trunk. Small satellite lesions outside 
the sharp edge are characteristic 
of monilial napkin dermatitis. 
Treatment is by local antifungal 
Creams. 




5. Common Umbilical Lesions 



5 






Umbilical sepsis (omphalitis) 

The necrotic tissue of umbilical cord 
is an excellent medium for bacterial 
growth. Omphalitis may remain 
localized or may spread causing 
abdominal wall cellulitis (as opposite 
figure) and bacteremia. Portal vein 
phlebitis may occur and lend later to 
extrahepatic portal hypertension. 
Antibiotic therapy effective against 
Staph, aureus and E.ooli is important 



Umbilical granuloma 

It is a moist granulation tissue at the 
base of the cord. The granuloma is 
soft, vascular and pinkish in color 
with mucoid or mucopurulent 
discharge. Cleaning with alcohol 
several times a day may be effective. 
Cauterization with silver nitrate (2 %) 
may be necessary in persistent eases. 




Umbilical hernia 

Umbilical hernia is a common anomaly 
that appear as a soft swelling covered 
by skin. It protrudes during crying, 
coughing or straining and it can be 
reduced easily through the fibrous 
ring of the umbilicus. Obstruction is 
unusual because ol "the wide ring. 
Most hernias thai appear in the In si 
6 months disappear spontaneously 
before the age of one year. 



,JtM, ^r 


i 



7 



^ 



6. Vascular Disorders 



Salmon patch 

Salmon patches (nevus simplex) 
are small ill-defined pink vascular 
macules that occur in 30-40% of 
normal newborn infants. The most 
common sites are glabella, eyelids, 
and back of the neck. Most lesions 
pei si si for several months but 
eventually fade and disappear. 




Port-wine stain 

Port-wine stains (nevus flammeus) 
are large sharply circumscribed 
pink to purple macular lesions. 
The head and neck are the most 
common involved sites. Most 
lesions are unilateral and usually 
end along the midline. Unlike 
salmon patches, port-wine stains 
are permanent lesions that do not 
disappear with time but in contrary 
they may become darker with time. 
When port-wine stain is localized 
to the trigeminal area of the face, 
especially around the eye, the 
diagnosis of "Sturge Weber 
syndrome" should be considered. 
However, it is important to note 
that port-wine stains are 
commoner as isolated lesions. 




Vascular Disorders 



Hemangioma of the back 
of the neck and trunk 

Hemangiomas are sharply demarcated 
bright red lesions that are protuberant 
and compressible. They may be present 
at birth or appear during the first two 
months. They may occur at any area 
Of the body and may be small or large 
and single or multiple. 




Multiple hemangiomas 
of the face 

Most hemangiomas undergo a phase 
of rapid expansion, followed by 
stationary period and finally by 
spontaneous involution. Most lesions 
involute completely before the age of 
nine years. Treatment is not required 
and reassurance of parents is important, 







Large tabulated hemangioma 
of the face 

Large hemangiomas may interfere 
with vision or feeding and may lead 
to ulceration and bleeding. Treatment 
includes dilute bicarbonate soaks, 
gel foam and compression therapy. 
Oral corticoteroid therapy for 4 weeks 
is effective in some patients. 




9 



7. Congenital Anomalies 



Cleft lip and palate 

The incidence of cleft lip with or without 
cleft palate is about 1 in 750 births. It can 
be just a small notch on the upper lip or 
it may cause complete separation and 
extension into the floor of the nose. It 
can be also unilateral (to one side) or 
bilateral. Surgical closure of cleft lip 
is made at the age of 3 months while 
closure of the palate is made before the 
age of 1 year to enhance normal speech. 




^Ri! 













- 



Meningomyelocele 

It is a fluctuant, midline mass mostly in 
the lumbosacral region. It is a saclike 
cystic structure covered by a thin later 
or epithelialized tissue (meningocele 
is covered by normal skin). It causes 
neurological manifestations as bowel 
and bladder incontinence and may be 
flaccid paralysis of lower extremities 
(these problems are usually absent 
with meningocele). Surgical repair can 
be made in the first week but bowel 
and bladder incontinence persist. 



*-*■ 







: 




Ambiguous genitalia 

It is a genitalia in which sex cannot be 
identified. It is either due to virilized 
female (labial fusion and clitornl 
hypertrophy) or undervirilizcd male 
(bifid scrotum and micropenis). It is 
a medical emergency and birth certificate 
should not be filled before identification 
of the sex (see endocrinal disorders). 



10 







I 



. 






V 



Congenital Anomalies 




*— 




-'>s, 



Talipes equinovarus 

It is a common mal formation that occurs due 
to intrauterine molding and fetal crowding. 
The foot is turned downwards and inwards so 
that the sole is directed medially. Orthopedic 
treatment should be started as early as 
possible in the first few days after birth. 





Congenital hip dislocation 

[l is another common malformation that occurs 

due to intrauterine molding and fetal crowding 

Limitation of abduction is the cardinal sign of i 

hip dislocation. Exami nation for hip dislocation 

is made by "Oftotant maneuver", With the hips and knees flexed at right angles, the 

thighs arc abducted; a dislocated femoral head will clunk back into the acetabulum. 

This palpable clunk can be felt by the middle finger of each hand placed over each 

great trochanter. Both hips should be examined independently. Suspicion is confirmed 

by an x-ray or ultrasound. Orthopedic treatment should be started as early as possible. 

11 



Congenital Anomalies 



Undescended testes 

It is the common disorder that 
occurs in 4% of boys at birth. In 
90% of cases, the testes can be 
palpated in the inguinal canal and 
in 10% of cases it is bilateral. In 
the majority of cases, the testis 
descends spontaneously during 
the first 6 months. If not, it will 
remain undescended and needs 
operation at I year old (orchipexy). 




Congenital hydrocele 

It is the common disorder that 
occurs in 1-2 % of boys at birth. 
It is an accumulation of fluid in 
the tunica vaginalis. It is a smooth 
and nontender swelling and 
transillumiation of the scrotum 
confirms the fluid-filled nature 
of the mass. Most cases resolve 
at the age of 1 year. 




Inguinal hernia 

It is the common disorder that 
occur in 4 % of newborns and it is 
6 times commoner in boys. It can 
be unilateral or bilateral and it 
appears as a bulge in the inguinal 
region. The bulge is more visible 
during crying or coughing. The 
hernia may descent to the scrotal 
sac but it can be reduced by 
gentle pressure. Once diagnosed, 
surgical repair is indicated. 

12 





8. Birth Injuries 






Caput succedaneum 

II is a diffuse edematous swelling of 
the soft tissue of the scalp over the 
presenting part of the head. It may 
extend over the middle line and may 
be associated with ecchymotic patches. 
The edema subsides spontaneously 
within the first dew days. 











* 














i A>* 


r 1 






- 






■ 7 <qM 








~i'. 




V 



Cephalhematoma 

It is a subperiosteal hemorrhage that 
presents as a firm swelling limited to 
the surface of one cranial bone usually 
the parietal. The swelling does not 
appear except after several hours after 
birth. Anemia and jaundice are the 
main complications and phototherapy 
may be needed. It usually subsides 
gradually over 4-6 weeks. 




Erb's palsy 

Injun of brachial plexus is common 
and it occurs following traction on 
the head and neck. The affected arm 
is flaccid with forearm pronation and 
wrist flexion (waiter's tip position). 




13 



9. Abnormal Birth Weight 



Premature baby 

Low birth weight (below 2.5 : Kg) is 
due to either premature delivery or 
intrauterine growth retardation (50% 
of cases tor each). PrcmnUi$* baby has 
incomplete flexion of limbs and signs 
of prematurity are evident (incomplete 
sole creases, underdeveloped genitalia, 
small breast nodule, underdeveloped 
ear lobule and fine wooly scalp hair). 



Intrauterine Growth 
Retardation (IUGR) 

Fetal malnutrition due to placental 
insufficiency leads to IUGR and low 
birth weight. The head is relatively 
large arid features of prematurity 
are absent. The skin is pale and looks 
dry with cracking and peeling. 





Infant of diabetic mother 

The baby is overweight, large, plump 
and plethoric. The face resemble 
that of patients receiving steroids. 
Hypoglycemia and hypocalcaemia 
are common and the baby tends to 
be tremulous and hyperexcitable. 
Cardiomegaly occurs in 30% of 
cases. The incidence of congenital 
anomalies is 3 times higher. Also the 
subsequent incidence of diabetes is 
higher than that of general population. 

14 




10. Chromosomal Syndromes (Trisomy 21) 



Mongoloid features 

Trisomy 21 (Down syndrome) is the 
most common autosomal trisomy (1/700 
live birth). Recognition at birth is not 
difficult due to its characteristic features 
(upward slanting palpebral fissure, 
fepicanthal folds. Hat nasal bridge, simian 
crease and big space between first and 
second toes). Associated congenital heart 
disease occurs in 40% of cases. Delayed 
motor and mental development appears 
in infancy. In absence of congenital 
heart disease, long term survival is usual. 




Simian crease and 
clinodactyly 

Simian crease (single transverse palmar 
crease ) is present in only 50% of cases. 
Clinodactyly (incurved little linger) is 
commonly present. It is important to 
note that simian crease is present in 
4% of normal individuals. 




Big space between 
first and second toes 

Big space between first and second toes 
is one of the most constant findings 
in Down syndrome (in 97% of cases). 
Also upward slanting palpebral fissure 
is present in 97% of cases. 



„JL- 





15 



Chromosomal Syndromes (Trisomy 18) 



Characteristic features 

Trisomy 18 (Edward syndrome) is 
the second most common autosomal 
trisomy (1/4000 live birth). The main 
characteristic features are low birth 
weight, microcephaly, micrognathia 
(receding mandible), low set 
malformed cars, prominent occiput, 
clenched fist, syndactyly and 
rokerbottom feet. 




Clinched fist 



Clinched fist syndactyly (fused digits 
or toes) and rokerbottom feet are 
commonly present limb anomalies. 
However, these anomalies are not 
peculiar to trisomy 18 and may be 
present in other morphological syndrome; 

Associated congenital heart disease 
occurs in 60% of cases. Severe CNS 
malformations as hydranencephaly 
are common. Prognosis is poor as 
30% of cases die in neonatal period 
and 90% die in infancy. 




Syndactyly 



Rockerbottom feet 




16 



— 






Chromosomal Syndromes (Trisomy 13) 



Coarse features 

Trisomy 13 (Patau syndrome) is the third 
most common autosomal trisomy ( 1 /6000 
live birth). The main characteristic features 
are low birth weight, microcephaly and 
coarse features ( low anterior hair line, 
mierophalmia, micrognathia, hypotelorisiih 
median cleft lip and palate and low set 
malformed ears). Associated congenital 
heart disease occurs in 80% of cases. 
Severe CNS malformations are common. 
Prognosis is poor as 50% of cases die in 
neonatal period and 90% die in infancy 




Low set malformed ears 

Low set malformed ears is usually present 
but this finding is common with many 
other chromosomal diseases. 




Polydactyly 

Polydactyly (extradigit) is common in 
trisomy 13 but again this finding is not 
peculiar and present in many other 
syndromes. 




17 



Chromosomal Syndromes (Turner Syndrome) 



Webbed neck and low 
posterior hair line 

Turner syndrome (45, X female) is 
a common chromosomal disorder 
of females (1/10.000). It can be 
recognized at birth by the presence 
of webbed neck, low posterior hair 
line, widely separated nipples and 
edema of the dorsum of hands and 
feet. Later in childhood, it presents 
with short stature and gonadal 
dysgenesis (primary amenorrhea). 



-' 



Widely separated nipples 

Associated renal anomalies (40% 
of cases) and cardiac anomalies 
especially coarctation of aorta 
(20% of cases) may be present. 



Edema of hands and feet 






18 




NUTRITIONAL 
DISORDERS 



1. Marasmus. 

2. Kwashiorkor. 

3. Nutritional Rickets. 



1. Marasmus 



First degree marasmus 

(loss of subcutaneous fat 
over the abdominal wall) 

Marasmus is a severe form of 
undernutrition. It is characterized 
by weight loss, subcutaneous fat 
loss and muscle wasting. According 
to the degree of wasting, marasmus is 
is divided into 3 clinical grades: 

First degree: Loss of subcutaneous 
fat over the abdominal wall. 
Second degree: Loss of subcutaneous 

fat over the buttocks and thighs. 
Third degree: Loss of subcutaneous 

fat over the face (senile or 

monkey face). 

Second degree marasmus 

(loss of subcutaneous fat 
over the buttocks and thighs) 



Third degree marasmus 
(Senile or monkey face) 







20 



2. Kwashiorkor 



facial edema, hair changes 
and vitamin deficiencies 

The kwashiorkor patient looks apathetic 
and miserable. Note the edema of the 
face, hair changes (the hair is lighter in 
color, sparse and easily detached) and 
angular stomatitis (ariboflavinosis or 
vitamin B 2 deficiency). 

Kwashiorkor is a severe form of 
malnutrition caused by severe protein 
deficiency with excess carbohydrate 
intake. It occurs mainly between 6 
months and 2 years (age of weaning). 

The constant features of kwashiorkor 
arc edema (face, dorsum of hands and 
feet), mental changes (apathy and 
anorexia), decreased muscle fat ratio 
and growth failure. 

Variable features are hair changes, 
skin changes, anemia, vitamin 
deficiencies and hepatomegaly. 

Skin changes 

Skin changes occur mainly in the lower 
limbs, buttocks and napkin area where 
darkening, fissuring, scaling and 
hypopigmentation occur. 

Edema of the dorsum of feet 







21 



3. Nutritional Rickets 



Large head and frontal bossing 

Most cases of nutritional rickets are seen between 
6 months and 2 years. Skeletal changes of rickets 
involve the head, thorax, limbs and spine, 

a) Head: Large head, frontal bossing, delayed 
closure of the fontanel and delayed teething. 

b) Thorax: Rosary beads (enlarged costochoodral 
junctions), longitudinal sulcus (vertical groove 
behind the rosary beads) and Harrison sulcus 
(horizontal groove at the lower costal margin). 
Chest deform i lies as flaring of lower ribs and 
pigeon chest (sternal protrusion) are seen in 
advanced eases. 

c) Limbs: Broad epiphyses at wrist and ankle joints 
and Marfan sign (transverse groove palpated over 
the medial malleoli) are the main findings, Limb 
deformities as genu varum {bow legs) or genu 
valgum (knock knees) are seen in advanced eases. 

d) Spine: Correctable rounded kyphosis may occur. 

Broad wrists 





Rosary beads 




Pigeon chest 




Broad ankles 



Bow legs 



Knock knees 







22 




INFECTIONS 



1. Scarlet fever. 

2. Measles. 

3. German measles. 

4. Roseola infantum. 

5. Chicken pox. 

6. Herpes simplex. 

7. Herpes zoster. 

8. Superficial bacterial infections, 

9. Superficial fungal infections. 

10. Mumps. 



1. Scarlet Fever 



Fine papular rash (sandpaper 
appearance) 

Scarlet fever is a bacteriaJ disease caused 
by group A beta-hemolytic streptococci. 
The disease starts acutely with fever, 
vomiting and abdominal pain. The rash 
appears on the first or second day and 
soon becomes generalized as a red 
punctate or finely papular rash (goose- 
flesh or sandpaper appearance). The face 
appears Hushed with cireumoral pallor. 




Strawberry tongue 

The most important two features are the 
presence of sore throat and tongue changes. 
In early days, the tongue has a white coat 
with prominent papillae 'white strawberry 
tongue" '. After several days the white coat 
desquamates leaving a red tongue with 
prominent papillae "red strawberry tongue' 

The rash remains for 3-7 days and fades 
with branny desquamation and peeling 
of finger tips. 

Peeling of finger tips 





r 



— 




_*. 



24 



2. Measles 



Maculopapular rash on the 
face, trunk and limbs 

Measles (Rubeola) is a viral disease. It 
starts with fever, which rises gradually 
during the first 4 days to reach 40.0°C 
with appearance of the rash. The fever 
is associated with severe catarrhal 
manifestations (rhinitis, conjunctivitis 
and cough). 

The maculopapular rash appears on the 
4th or 5th day. It starts in the face and 
within 2 days it covers the whole body. 
The rash characteristically reaches the 
feet while still in the face. It fades in 
the same order of distribution over the 
next 3 days (i.e. remains for 5-6 days). 

The most important pathognomonic 
feature of measles is the koplik's spots. 
They appear as white grains of sand 
surrounded by red areola and located 
on oral mucosa opposite to the lower 
molar teeth. They appear on the third 
day of illness (one day before the 
onset of rash), remain for one or 2 days 
and disappear with appearance of the 
rash (i.e. it is an early diagnostic sign). 

Koplik's spots 






25 



3. German Measles 



Maculopapular rash on 
the face, trunk and limbs 
(remains for 2-3 days) 

German measles (Rubella) is a viral disease. 
It starts with mild fever and lymphadenopathy 
The fever remains only for 1-2 days and it 
may be absent (cold measles). 

The rash starts on the first or second day 
on the face and spreads rapidly to involve 
the trunk, then it extends rapidly to cover 
the whole body in 24 hours. The rash 
characteristically leaves the face while 
reaching the trunk and it clears completely 
by the third day (3 day measles). 

The most important characteristic feature is 
the lymphadenitis of the occipital, post- 
auricular and posterior cervical groups. 
Complications arc almost absent in children. 

Congenital rubella 

German measles in pregnant women 
is serious to the developing fetus. 
Congenital rubella infection is associated 
with serious anomalies especially cataract 
and congenital heart disease. 





r — 




Cataract of congenital rubella 




26 



4. Roseola Infantum 






Rose maculopa pillar 
rash mainly on the trunk 

(remains only for 24 hours) 

Roseola infantum (or Exanthem 
subitum) is a common viral disease 
of infants and young children. 
The disease starts with a sudden fever, 
which rises rapidly to 39.5 - 41 .0C°. 
It remains high for 3 - 4 days without 
any localizing signs then it falls by 
crisis with appearance of the rash. 

The rash appears on the 4th day with 
the drop of temperature. It starts on the 
trunk and spreads rapidly to arms and 
neck with minimal face involvement. 
It fades very rapidly in 24 hours. 
The rash can be considered as a good 
sign because complete recovery will 
occur over the next 24 hours. The 
most characteristic feature is the 
sudden drop of temperature with 
appearance of the rash. 




Early diagnosis before 
appearance of the rash is 
difficult but the condition 
should be suspected in 
presence of high fever 
without localizing signs 
in late infancy. Febrile 
convulsions may occur 
with the sudden rise of 
temperature in susceptible 
infants. 




27 



5. Chickenpox 



Pleomorphic vesicular rash 



Chickenpox (Varicella) is a common 
viral disease that occur at any age 
including neonates. The disease 
starts with mild fever and the skin 
rash. The fever remains only for 
1-2 days. 

The vesicular rash appears first 
on the trunk and spreads to face 
and proximal parts of extremities 
(centripetal distribution). It appears 
in successive crops over 3-4 days. 
Each crop starts as a maculopapular, 
which rapidly vesiculates. Vesicles are 
oval teardrops surrounded by a red 
erythema. On the second day they 
change to pustules then crusts. So, 
at the peak of the disease the rash 
consists ol crusts (earliest crop), 
pustules (next crop), vesicles and 
papules (latest crop)... i.e. the rash is 
pleomorphic. It is characteristically 
associated with itching (pruritic). 

The whole duration of illness from 
the papules of first crop to the crusts 
of last crop is one week. 















Tear drop vesicles with 
surrounding erythema 






fcv 






28 



Chicken pox 




Severe chicken pox with 
vesicles on oral cavity 

Vesicular rash on the face and 
oral cavity (tongue, gingiva and 
hard palate). 

Although chickenpox runs a benign 

course in most cases, serious and 

even fatal complications may occur 

especially in young infants and 

immunologically deficient patients. 

Secondary bacterial infection of the skin lesions may occur due to scratching. 

Hematological complications as thrombocytopenia and purpura fulminans may also 

occur. Neurological complications include encephalitis, Guillain Barre syndrome, 

facial nerve palsy and optic neuritis. 



Neonatal chickenpox 

Chickenpox in neonates and young 
Infants is very serious and may be 
even fatal. The disease is usually 
severe and complications are common. 
Thrombocytopenia and purpura 
fulminans (as opposite figure) are 
particularly very serious and may 
lead to fatal hemorrhage. 




29 



6. Herpes Simplex 



Uniform vesicular rash 

Herpex simplex is a viral disease that 
may occur at any age including 

neonates. Il disease starts with lever, 
which may reach 40.0°C or more 
and may remain as long as 10 days. 

The rash appears on the second or 
third day. It mainly affects the muco- 
cutaneous junctions (the angles of 
the mouth or near genitalia) but it 
may be also generalized. The rash 
starts as vesicles , which are 
characteristically painful. They 
change to pustules and crusts over 
a period of 10 days. The rash is 
uniform and not pleomrphic as in 
chickenpox. 

Neonatal herpes simplex 

Neonatal herpes simplex is a serious 
lire-threatening disease. Infection 
can be acquired during delivery or 
after birth. The disease can be 
disseminated with severe skin lesions 
as purpura fulminans. Mortality rate 
is high but therapy with intravenous 
acyclovir reduces the risk of death. 



,&* 



^BIH 




|^ : y\ 




•oj.. 


-^ «<H 




4 




. 


% 




^WM 


3^ 












30 



7, Herpes Zoster 






Unilateral vesicular rash 
confined to one dermatome 

Herpes zoster (Shingles) is a viral 
disease that mostly occurs in adults. 
It is uncommon below the age of 10 

years. 

The disease starts with fever 
and pain along the involved 
dermatome. Fever may remain along 
the course of illness (2 -3 weeks). 

The vesicular rash appears after few 
days and is characteristically unilateral 
and eon lined to a dermatome or 2 
adjacent ones. The most commonly 
involved areas arc the trunk but face, 
scalp and limbs may be affected. 
It starts as groups of palpulcs, which 
rapidly vesiculate, then become 
pustular and dry over a period of 5- 10 
days. Successive crops appear for 1-4 
days along the course of the nerve. 
The rash remains for 2 -3 weeks. It is 
characteristically accompanied with 
pain and tenderness along the involved 
dermatome. The unilateral distribution 
of the rash and the accompanied pain 
and tenderness are the characteristic 
features. 

In children, complications 
are unusual and the course is usually 
mild and prognosis is generally good. 
Transient paralysis of I he a fleeted part 
is rare. Other complications as post- 
herpetic pain and keratitis are rare in 
children. Treatment is by oral 
acyclovir 





mmm 




1 





31 



8. Superficial Bacterial Infections 



Impetigo 

It is a common skin infection caused 
by group A streptococci and occurs 
mainly in children during the hot 
summer season. The main sites of 
involvement are the exposed areas 
as the face, neck and limbs. It starts 
as erythematous macules that rapidly 
develop into thin-walled vesicles and 
pustules, which rapidly develop into 
sticky raised crusts. Treatment is by 
oral erythromycin or 11 rst generation 
cephalosporins. 



* 



Bullous impetigo 

It is mainly an infection of infants 
and young children and always 
caused by staphylococcus aureus. 
Flaccid transparent bullae develop 
most commonly on the skin of the 
face, trunk, buttocks or extremities. 
Rupture of bullae occurs easily leaving 
a narrow rim of scale at the edge 
of the shallow erosion. Treatment is 
by oral erythromycin or first 
generation cephalosporins. 

Scalded skin syndrome 

It is a staphylococcal disease of infants 
and young children and it is considered 
as a severe form of bullous impetigo. 
The disease starts with fever and skin 
erythema. The erythematous skin 
rapidly acquire wrinkled appearance 
and flaccid bullae develop. Then, large 
sheets of epidermis peels away leaving 
moist glistening denuded areas. Healing 
occurs without scarring in 10-14 days. 
Treatment is by parenteral antibiotics. 

32 







9. Superficial Fungal Infections 



Tinea capitis 

ll is a common fungal infection of the 
scalp mostly caused by trichophyton 
tonsurans. It causes erythematous scaly 
circular plaques (ring worm) with 
localized hair loss. Broken hair follicles 
may appear as black dots (black-dot ring 
worm). Treatment is by oral griseofulvin 
lor 8- 12 weeks. 




Tinea corporis 

It is a common fungal skin infection 
mostly caused by different trichophyton 
species. It causes the characteristic scaly 
eryhthematous annular plaques that 
spread peripherally and clear centrally, 
giving the characteristic annular pattern. 
Treatment is by topical application of 
antifungal creams (as miconazole) for 
2-4 weeks 



Tinea versicolor 

It is a common fungal skin infection 
Mostly caused by yeast maiassezia furfur. 
The characteristic scally lesions vary in 
color. Ihey are reddish brown in whites 
and hypopigmented or hyperpigmenled 
in blacks. The most commonly involved 
areas are the neck, upper chest, upper arm 
and back. The lesions commonly enlarge 
and merge to form confluent patches. 
Treatment is by topical application of 
antifungal creams. 














*» 












33 



10. Mumps 



Parotid swelling (unilateral 
or bilateral) 

Mumps (Epidemic parotitis) is a 
viral disease, caused by myxovirus 
parotitis. It is the most common 
cause of acute parotid swelling. The 
parotid swelling occupies the parotid 
region over the angle of the mandible. 
It is continuous above and below the 
border of mandible and it elevates 
the ear lobule and pushes it upwards 
and outwards. The illness starts 
acutely with fever and swelling of 
one parotid gland. Swelling of the 
other parotid gland follows after 1-2 
days. The swelling reaches its peak 
within 2-3 days and subsides slowly 
over 3-7 days. The swelling is painful 
and tender and better seen than felt as 
the edema of the skin and soft tissues 
usually extends and masks the limits 
of the swelling. The parotid swelling 
may be accompanied with swelling 
of other salivary glands (sublingual 
and submandibular glands). In some 
cases, swelling of submandibular 
glands occurs without parotid 
swelling. Although the course is 
generally benign in most cases, 
serious complications may occur. 
Meningoencephalitis is the most 
common and it is manifested by 
vomiting, headache, irritability and 
neck rigidity. Pancreatitis may also 
occur and leads to acute abdominal 
pain and vomiting. Orchitis is rare 
before puberty. Diagnosis can be 
confirmed by the presence of 
elevated serum amylase level. 



34 








NONINFECTIOUS 
SKIN LESIONS 



1. Urticaria. 

2. Papular urticaria. 

3. Atopic dermatitis. 

4. Seborrheic dermatitis. 

5. Erythema multiforme minor. 

6. Erythema multiforme major. 

7. Kawasaki disease. 

8. SLE and dermatomyositis. 

9. Sweat rash. 



1. Urticaria 



Urticarial rash on trunk 
and limbs 

The urticaria rash may be localized or 
generalized and it consists of erythema- 
tous circumscribed raised skin lesions 
(wheals). The individual lesion resolves 
within two days but flew ones may 
continue to appear singly or in crops. 
The lesions are usually itchy and itching 
may be intense. 




Causes of urticaria are very numerous 
and include ingestants (certain Ibods as 
fish, banana, chocolates, nuts or certain 
chugs as penicillin, sulphonamides. 
aspirin), injectmts (as injection of drugs 
as penicillin, serum or blood transfusion, 
and insect stings), inhalants (as inhalation 
of pollens, danders or mites), contackmts 
(as skin contact with drugs or chemicals). 
And physical exposure to cold (cold 
urticaria) or sun (solar urticaria). 

Treatment is by oral antihistamines 
and local calamine lotion. 







Typical raised urticarial wheals 




mm 



36 



2. Papular Urticaria 




Papular rash mainly on limbs 

Papular urticaria is a very common 

condition in children, which represents 

i delayed hypersensitivity reaction to 

insect bites. Fleas, ants and mosquitoes 

are the main responsible insects. The 

papular lesions may appear in large 

numbers and usually involve the 

extensor surfaces ol extremities. The 

trunk may be also involved but the 

face and scalp are spared. The 

individual papule is about 2-5 mm 

in diameter and is surrounded by 

an erythematous area. Some papules, 

but not all, may vesiculate. The lesions 

are itchy and usually persist for more 

than 2 weeks. Recurrences are common. 

The condition should not be confused 

with other papular lesions especially 

scabies. In scabies the intensely pruritic 

eruption involves the interdigital spaces 

wrists, elbows, ankles, buttocks, umbilicus, groin and genitalia, and the papules are 

usually smaller in size than those of papular urticaria. Treatment is by oral 

antihistamines, Local calamine lotion and avoidance of insect bites. 





37 



3. Atopic Dermatitis (Atopic Eczema) 



Infantile eczema 

It is a form of atopic dermatitis that 
mostly starts in infancy. It mainly 
involves the face (cheeks) but scalp 
and extensor surface of extremities 
may be also affected. The lesions 
are intensely pruritic erythematous 
papules with scaling and roughening 
of the skin. It responds to topical 
steroids but the lesion has a recurrent 
nature. 



Infantile eczema 

Several factors can increase pruritis 
and scratching as foods, inhalant 
allergens, bacterial infections, 
reduced humidity, excessive 
sweating and irritants as wool, 
soaps and detergents. 

Atopic dermatitis is frequently 
associated with elevated level of 
IgE. 80% of patients develop 
allergic rhinitis or asthma. 



Eczema herpeticum 

Scratching of eczema tous lesions 
can lead to secondary infection 
with herpes simplex (eczema 
herpeticum). Vesicles appear on 
eczematuos lesions and eventually 
turns to scabs. Recurrent attacks are 
common on chronic atopic lesions. 











4. Seborrheic Dermatitis 



Cradle cap 

Seborrheic dermatitis is a chronic 
inflammatory disease common 
to infants and young children 
and may start in the neonatal 
period. The scalp is the most 
common involved site where 
diffuse or focal scaling and 
crusting occur (cradte cap). 




Seborrheic napkin rash 

The inflammatory process may 
involve the face, neck, retro- 
auricular area and diaper area. 
Diffuse erythema with scaling 
and crusting occurs. 




Leiner disease 

Leiner disease is a generalized 
severe seborrheic dermatitis 
associated with chronic diarhhea 
and dysfunction of immune 
system. The condition may 
resemble psoriasis and can 
he only differentiated with 
difficulty. 




39 



5. Erythema Multiforme Minor 



Multiple skin lesions 
(maculopapular, vesicular 

and urticarial) 

• 
Erythema multiforme is a 

hypersensitivity reaction to a 

variety of causes as drugs, 

infections or exposure to toxic 

substances. The disease occurs 

in 2 forms (minor and major) 

Typical iris or target lesions 

Erythema multiforme minor is 
characterized by skin involvement 
only. The skin lesions are variable 

ami multiple and may be maculo- 
papular, vesicular or urticarial. 
The lesions appear in crops for 
up to 3 weeks and affect mainly 
the extensor surface of extremities 
and trunk with symmetrical 
distribution. Palms and soles may 
be also affected. The characterise 
skin lesion "iris or target lesion " is 
formed of urticarial lesions where 
dusky centers are surrounded by 
darker rings. 





Vesicular lesions on hands 



The skin lesions are not itchy and 
heal with hypopigmentation or 
hyperpigmentation but without 
scarring. 




40 



6. Erythema Multiforme Major (Stevens Johnson) 



Early erythematous macules 

Erythema multiforme major 
(Stevens -Johnson syndrome) is a 
severe serious form characterized 
by involvement of the skin and 
mucous membranes. The illness 
starts abruptly with fever and 
erythematous macules involving the 
face, body, palms and soles, These 
macular lesions change into bullae 
involving the skin, lips, mouth and 
conjunctiva. 




^^^**"**--.-.. 







A 




~\ 


! 



zs 



Bullous lesions on the skin 
and mouth 

New lesions erupt for I - 4 weeks 
and healing occurs during the next 
6 weeks. Oral lesions arc painful 
and interfere with feeding. Ocular 
lesions (mucopurulent conjunctivitis) 
may result in serious complications. 
Secondary bacterial infection of the 
denuded skin may result in 
septicemia and death. 




Bullous lesions on the palm 

Involvement of the palms and soles 
with bullous lesions is characteristic. 




41 



7. Kawasaki Disease 



Strawberry tongue and 
cervical lymphadenopathy 



Kawasaki disease (mucocutaneous 
lymph node syndrome) is a disease 
of unknown etiology mainly 
affecting children below the age 
of 5 years. The illness starts 
abruptly with high fever, which 
remains for one to several weeks. 




Maculopapular rash 

The fever is associated with at 
least 4 of the following 5: 

1. Oral lesions including dry 
erythematous fissured lips and 
strawberry tongue. 

2. Skin rash, which may be 
maculopapular or erythema 
multiforme but not vesicular, 

3. Cervical lymphadenopathy, 
which is nontender, may be large 
and unilateral or bilateral. 

4. Edema, erythema and peeling 
of finger tips. 

5. Bilateral conjunctival injection, 

Coronary vasculitis occurs in 
30% of cases. 

Edema and erythema 
of the palms 

Prognosis is generally good and 
most cases recover completely v 
over several weeks. 

42 






























? 






Fw 









8. Systemic Lupus and Dermatomyositis 



Systemic lupus 
(Malar butterfly rash) 

Systemic lupus erythematosus 
(SLE) is a disease of multisystem 
involvement mainly affecting females 
above the age of 8 years. Diagnosis 
of SLE depends on the presence of 
4 or more of I I criteria (malar 
butterfly rash is one of them). For 
more details, see Pediatric clinical 
diagnosis. 




Dermatomyositis 
(Heliotrope eyelids) 

Faint malar rash with violaceous 
discoloration of eyelids. 

Dermatomyositis is a multisystem 
disease characterized by a slowly 
developing muscle lesion and 
skin lesions. Myositis is manifested 
by weak, tender and indurated 
muscles mostly of the proximal 
groups. The skin over the involved 
limbs is usually thickened, tight and 
may be adherent to the underlying 
structures. A dusky? erythema may 
cover the upper trunk and extremities. 
The most characteristic skin rash is 
the heliotrope eyelids (see above). 

Dermatomyositis 

(Erythema on extensor 
surface of extremities) 





43 



9. Sweat Rash (Miliaria) 



Miliaria rubra 

Sweat rash (or miliaria rubra) is a 
common inflammatory disease of 
the skin caused by mechanical 
obstruction of sweat ducts. It is 
common in infants especially in hot 
weather (in summer season). 

The rash involves mainly the neck, 
trunk and diaper area but the limbs 
and face may be also affected. 




The lesion is usually fine papular with 
intense erythema. The condition 
responds dramatically to cooling 
(by regulation of environmental 
temperature and by removal of 
excessive clothing). A cool bath is 
often helpful in relieving pruritis, 
Topical agents are ineffective and 
may exacerbate the eruption. 



H 




;■<• 





Miliaria crystalline 

This form of miliaria is most common 
in newborns and young infants. 
It is characterized by pin-point clear 
vesicles that may cover large area 
of body surface. The condition is 
differentiated from bullous impetigo 
by the superficiality of the vesicles, 
clarity of fluids and absence of 
inflammation. 




% 



44 




1 ■ 







\J 




V\ M 



1. Small and large head. 

2. Floppy infant. 

3. Cerebral palsy. 

4. Duchenne muscular dystrophy. 

5. Neurofibromatosis. 

6. Tuberous sclerosis. 

7. St urge Weber syndrome 



1. Small and Large Head 



Familial microcephaly 

Small head with severe affection of 
frontal lobe resulting in backward 
sloping forehead (camel head). 
It is associated with severe mental 
retardation. 




Congenital hydrocephalus 

Neglected congenital hydrocephalus 
with large head, frontal bossing, dilated 
scalp and forehead veins and downward 
deviation of the eyes (setting sun eye 
sign). Hydrocephalus should be 
suspected and diagnosed earlier than 
that by serial measurement of head 
circumference and CT scan of the head. 







Hydranencephaly 

Large head with marked frontal bossing 
and associated anomalies (low set ears, 
micrognathia (receding mandible) 
and prominent occiput. Chromosomal 
karyotype proved that the baby is 
having trisomy 1 8, 

Transillumination of the head proved 
that the large head is due lo severe 
CNS anomaly (hydranencephaly). 

46 







■ 






2. Floppy Infant 









Floppy infant is an infant with 
severe persistent hypotonia present 
at birth or in early infancy. Diagnosis 
depends on the presence three signs 
(frog leg position, head lag and 
curved trunk on ventral suspension). 

Frog leg position 

In supine position, the limbs are 
abducted and slightly flexed 
simulating frog legs. This denotes 
hypotonia of limbs. 









Lr r 






w 


M Wk 






V 


<# 


K *■**-.- 


r *t"" 




^ 






1 







Head lag 






When the baby is pulled up from 
his hands, while in supine position, 
the head lags backwards. This 
denotes hypotonia of neck muscles. 



Curved trunk on ventral 
suspension 

When the baby is suspended in 
prone position over the examiner's 
palm, he droops around it. This 
denotes hypotonia of trunk muscles. 

Werdnig- Hoffmann disease is 

the commonest cause of floppy infant. 
It is an autosomal recessive disease 
characterized by degeneration of 
anterior horn cells. Clinically, there 
is severe hypotonia, bulbar palsy 
and visible tongue fasciculations. 
Most cases die in the first 2 years by 
respiratory paralysis. 




47 



3. Cerebral Palsy 



Spasticity and scissoring 
of lower limbs 

Cerebral palsy is a term used to 
describe a heterogeneous group 
of disorders characterized by 
nonprogressive motor weakness 
resulting from a defect or lesion 
of the developing brain. According 
to the type of motor weakness, it is 
classified as atonic, spastic, extra- 
pyramidal and mixed. 

Spastic cerebral palsy (the most 
common type) is characterized by 
hypoertonia and exaggerated tendon 
reflexes. 

The distribution of spasticity is 
Variable. It may be monoplegia (only 
one limb is affected), diplegia (two 
limbs, usually the lower limbs), 
hemiplegia (one side is affected ) 
and quadriplegic (four limbs are 
affected). With severe spasticity 
of lower limbs, scissoring of lower 
limbs occurs and ankle clonus 
becomes evident 

Associated neurological signs as 
mental retardation, epilepsy, squint, 
pseudo-bulbar palsy and/or 
microcephaly may be present. 





<; 



Physiotherapy 



Physiotherapy is important to 
prevent contractures and muscle 
wasting. 

CT scan of the head may show 
brain atrophy. 



Diplegic Hetniplegie Quadriplegic 




48 



4, Duchenne Muscular Dystrophy 





Duchenne muscular dystrophy is commonest cause 
of chronic progressive motor weakness in children. 
It is an x- linked disease appearing only in males with 
an onset of illness during the first 5 years and usually 
alter infancy. The main characteristic features are: 

a) Weakness of shoulder girdle muscles: The boy 
becomes unable to raise his arm above his head 
or to comb his hair. Slipping sign is positive (on 
trying to lift the child from the axillae, he slips 
through the examiner's hands). 

b) Weakness of pelvic girdle muscles: The boy has 
a waddling unsteady gait. Difficulty in climbing 
stairs and in rising from the floor are evident. 
Cower' s sign is positive (the boy rises from the 
floor by climbing up his legs). 

c) Pseudohypertrophy of calf muscles: It is the most 
characteristic feature and it is usually associated 
with wasting of thigh muscles. Tongue and muscles 
o iupper limbs may also show a pseudohypertrophy. 

d) Other features: Mild degree of mental retardation is usually present and cardio- 
myopathy is a constant feature and may be the cause of death, 

e) The course is gradually progressive and most patients become unable to walk at the 
age of 12 years. Death usually occurs during the next 5 years due to respiratory failure 
or severe congestive heart failure. 

/) Confirmatory investigations: Serum creatine phosphokinase is greatly elevated to 
thousands (normal level is below 60 units/liter). EMG shows nonspecific myopathic 
changes. Muscles biopsy is characteristic and diagnostic. 

Gower's sign (the boy rises from the floor by climbing up his legs) 



Waddling unsteady gait 




Note also the hypertrophied calf muscles (arrow). 



49 



5. Nurofibromatosis 



Cafe-au-lart spots 

Neurofibromatosis is the commonest 
neurocutaneous syndrome (1/4000). 
It is an autosomal dominant disease 
characterized by skin and neurologic 
manifestations, 

I afe-cut-iait spots are the most 
characteristic feature of the disease 
as they are present in 100% of cases. 
They are present at birth with 
tendency to increase in size, number 
and pigmentation during thefirst few 
years of life. Presence of more than 
5 spots greater than 5 mm in diameter 
is diagnostic. Neurofibromas of the 
skin and subcutaneous tissues usually 
appear in late childhood. Plexiform 
neurofibroma is a large infiltrative 
tumor causing disfigurement. 

Neurological manifestations include 
learning and speech difficulties. 

Brain tumors (optic glioma, meningioma, neurofibroma or astrocytoma) arc common 
and they are the principal risk and the main cause of death. 




Plexiform neurofibromas 



Neurofibromas 





50 



6. Tuberous Sclerosis 



Hypopigmented macules 

Tuberous sclerosis is the second most 
common neurocutaneous syndrome 
(1/30000). It is also an autosomal 
dominant disease characterized by skin 
and neurologic manifestations. 

Hypopigmented macules on the trunk 
and limbs are present at birth in almost 
all cases. They are oval or irregular 
and ranging from few mm to several 
cms. 




wmm 




wmmmm* 



Sebaceous adenomas 

Sebaceous adenomas are the most 
characteristic lesion that usually 
appears at 4 - 6 years. They are small 
bright red or brownish nodules on 
the nose and cheeks (butterfly 
distribution), which may be confused 
with acne. 




Shagreen patches 

Shagreen patches are a slightly raised 
indurated areas mainly located in 
lumbosacral region. 

Neurological manifestations include 
epilepsy (in 90% of cases) and mental 
retardation (in 60% of cases). 
Behavioural disorders as hyperactivity 
and destructiveness are common. 




51 



7. Sturge Weber Syndrome 



Unilateral port-wine 
nevus of the face 

Sturge Weber syndrome 
is the third most common 
neurocutaneous syndrome 
(1/50000). It is a sporadic 
nongenetic disease. 

Unilateral facial port-wine 
nevus is the most important 
feature of the disease. It 
usually involves the upper 
face and the eye lids but 
lower face may be also 
affected. However, not all 
children with facial nevus 
have Sturge Weber disease 
(see also port -wine stain 
in newborn chapter). 




Buphthamos and glaucoma of the eye on same side of the lesion are common. 
Neurological manifestations include unilateral convulsions and hcmiparesis on the 
other side of the lesion. Learning difficulties or mild mental retardation occur in late 
Childhood. 





52 




DIGESTIVE AND 
RENAL DISORDERS 



1. Painful oral lesions. 

2. Diarrheal dehydration. 

3. Viral hepatitis. 

4. Hepa tosplen omega ly. 

5. Veno-occlusive disease. 

6. Nephrotic syndrome 



1. Painful Oral Lesions 



Monilial stomatitis 

It is an acute infection of oral cavity 
caused by Candida albicans. It is 
most common in neonatal period 
and early infancy. It is characterized 
by white flaky plaques covering all 
or part of the tongue, gingiva and 
oral mucosa. These plaques when 
removed leave a bright inflamed 
base. The condition usually subsides 
within one week of effective therapy 
with oral nystatin or miconazole. 



Herpetic gingivostomatitis 

It is an acute infection of the oral 
cavity caused by herpes simplex virus. 
It is most common between the ages 
of I - 3 years. Clinically, the condition 
starts with high fever, severe mouth 
pain, salivation and refusal of feeding. 
Examination of oral cavity reveals 
small ulcers (2-10 mm in diameter) 
over the tongue, gingiva and oral 
mucosa. In severe cases, ulcers may 
involve all oral mucosa. 





%- 



mm 






■i 



Herpangina 

It is an acute infection of oral cavity 
caused by coxsackievirus. It is mostly 
seen in children below the age of 5 yrs. 
Clinically, there is fever, sore throat 
and discrete vesicles and ulcers mainly 
located on the anterior tonsillar pillars. 
The ulcers are small in size and few in 
number (1-5). In severe cases, ulcers 
may involve the soft palate, uvula, 
tonsils and posterior pharyngeal wall. 

54 




Painful Oral Lesions 



Hand foot and mouth disease 

It is an another acute disease caused by coxsakievirus. It is characterized by vesicles 
and ulceration in the mouth and vesicles on the hands and feet. 




Aphthous ulcers 

It is a condition of unknown etiology 
with a tendency to recurrence. It is 
characterized by a solitary or few 
painful ulcers mainly in the floor of the 
mouth, ventral surface of the tongue and 
the raucobuccal fold. The ulcer is usually 
small (less than 5 mm) with a depressed 
center and erythematous periphery. 
Healing occurs in less than a week. 

Geographic tongue 

It is a common benign condition, which 
may be misdiagnosed as oral moniliasis 
or herpetic gingivostomatitis. It is charac- 
terized by the presence of one or more 
bright red patches with whitish or 
grayish margin upon the dorsum of an 
otherwise normally roughened tongue. 
The patches look like a map (geographic 
tongue). The condition is asymptomatic 
and may persist for several weeks or 
months. Treatment is not required. 





55 



2. Diarrheal Dehydration 



Sunken eyes and 
dry tongue 

Severe gastroenteritis is the most 
common cause of dehydration 
in infants and young children. 

Clinical signs of dehydration 
are sunken eyes, dry tongue 
and lost skin turgor. 

The degree of dehydration 
(mild, moderate jor severe) 
depends on the severity of signs 
and the degree of weight loss. 








Lost skin turgor 

The type of dehydration 
(isonatremic, hyponatremia or 
hypernatremic) can be clinically 
suggested by the relative losses 
of water and electrolytes: 

- In isonatremic dehydration, 
dryness of the tongue and lost 
skin elasticity are proportionate. 

- In hypernatremic dehydration, 
the tongue is very dry and skin 
elasticity is not severely affected. 

- In hyponatremic dehydration, 
the tongue is moist and skin elasticity is severely affected. 

- Accurate differentiation is by measurement of serum sodium level. 

Other associated complications should not be overlooked especially shock, metabolic 
acidosis, acute renal failure and electrolyte disorders as hypokalemia and hypocalcemia. 
Convulsions and bleeding (hypoprothrombinemia or DIC) may also occur. 

Treatment of moderate to severe cases is by l.V fluid therapy over 24 hours. The 
treatment includes shock therapy, deficit therapy and maintenance therapy. 



\ 



56 



3. Viral Hepatitis 



Dark urine (bilirubinuria) 

Viral hepatitis (infection with hepatic 
viruses) is a common health problem. 
Clinical manifestations are divided 
into 3 stages (preicteric, icteric and 
convalescent stages). 

a) Preicteric stage is characterized by 
mild fever, anorexia, vomiting and 
abdominal pain. This stage usually 
lasts for 4-6 days and the urine 
usually becomes dark (bilirubinuria) 
during the last 1 - 3 days. 

Jaundice 

b) During the icteric stage, jaundice 
appears and the liver is enlarged and 
tender. The early manifestations as 
fever, vomiting and abdominal pain 
disappear but anorexia may continue. 
This stage usually lasts for 2- 4 wks. 

c) Convalescent stage starts with 
complete resolution of hepatic injury. 
During this stage some children may 
continue to complain of malaise and 
fatigue for several weeks. 



Tender Hepatomegaly 

Laboratory diagnosis of acute 
hepatic injury includes direct or 
mixed hyperbilirubinemia and 
raised serum transferases. 

Laboratory identification of the 
causative agent of acute hepatitis 
(A, B or C) depends on detection 
of hepatitis viruses markers. 







57 



4. Hepatosplenomegaly 



In neonatal period 
and early infancy 

In this age group, liver is usually 
bigger than the spleen because 
liver diseases are the main causes. 

The main associated clinical 
finding is jaundice. 

The main causes are: 

1. Neonatal hepatitis. 

2. Intrahepatic biliary atresia. 

3. Metabolic liver diseases as 
galactosemia and tyrosinemia. 




In late infancy 
and early childhood 

In this age group, spleen is 
usually bigger because liver 
diseases are not the main causes. 

The main associated clinical 
finding is anemia. 

The main causes are: 

1. Metabolic diseases (as Gaucher 
disease and Neimann Pick disease). 

2. Chronic hemolytic anemia. 

3. Acute leukemia. 




In late childhood 

In this age group, liver is usually 
bigger than the spleen because 
liver diseases are the main causes. 

The main associated clinical 
finding is jaundice. 

The main causes are: 

1. Chronic hepatitis. 

2. Metabolic liver diseases as 
Wilson disease. 

3. Bilhar/iasis in rural endemic areas. 




58 



5. Veno-occlusive Disease 



Hepatomegaly, ascites and 
dilated abdominal wall veins 

Veno-occlusive disease is an intrahepatic 
obstruction of hepatic veins by thrombotic 
lesions, which results in apostsimtsoic/al 
portal hypertension. The cause is unknown, 
but ingestion or herbal hepatotoxins may be 
responsible. 

Clinical diagnosis depends on the presence 
of hepatomegaly, rapidly developing ascites 
and dilated abdominal wall veins in a mal- 
nourished child between the ages of I- 4 
years. Jaundice is usually mild or absent and 
spleen is not enlarged. Prognosis is generally 
bad as most cases deteriorate and die within 
several months of onset. Some cases may 
live longer and develop liver cirrhosis. 





59 



6. Nephrotic Syndrome 



Facial edema (Puffy face and 
swollen eyelids) 

It is the most common cause of generalized 
edema in children. It is a clinico-laboratory 
syndrome of 4 components: 

I. Generalized edema: Swollen eyelids, puffy 
(ace and edematous limbs. Scrotal edema (in 
males), abdominal wall edema, and ascites 
occur in advanced cases. 
2 Massive proteinuria: Above 2 gm/24 hours 
Levels above 5 -10 gm/24 hours may occur. 

3. Hypoprote'memia: Scrum albumin below 
2.5 gm/dl. 

4. Hypercholesterolemia: Serum cholesterol 
level above 300 mg/dl. 



Abdominal wall edema 

Minimal change disease is the most 
common in children. It is characterized by: 

1. Age of" onset is between 2-6 years. 

2. There is no significant or persistent 
hypertension or hematuria. 

3. Proteinuria is selective (mainly albumin). 

4. Excellent therapeutic response to 
corticosteroid therapy. 

5. It is a disease of remissions and 
exacerbations. Several relapses may occur 
but without deterioration of renal function. 

6. Renal biopsy: Under light microscope, 
the glomeruli are free. Electron microscopy 
reveals fusion of the epithelial foot 
processes of the glomerular capillary wall. 

Scrotal edema (in males) 






60 




HEMATOLOGIC 
DISORDERS 



1. Beta thalassemia major. " 

2. Idiopathic thrombocytopenic 
purpua (UP). 

3. Disseminated intravascular 
coagulation (DIC). 

4. Henoch-Schonlein purpura. 

5. Hemophilia. 



1- Beta Thalassemia Major (Copley's Anemia) 



Anemia (pallor) and 
Mongoloid features 

Anemia, large head, prominent maxilla 
and mongoloid features. 

The clinical triad of chronic anemia, 
mild jaundice and splenomegaly (or 
hepatospienomegaly) is characteristic 
of chronic hemolytic anemia. Positive 
family history and history of repeated 
transfusions may be obtained. 
Growth failure (short staure) and 
skeletal changes (large head, prominent 
maxillae, mongoloid features) may be 
prominent especially in severe cases 
of Cootey's anemia. 



Short stature and 
hepatospienomegaly 

Laboratory diagnosis of chronic 
hemolytic anemias depends on 
the presence of chronic anemia, 
sustained reticulocytosis above 2%, 
high serum iron (above 150 mcg/dl) 
and low iron binding capacity. 

Important causes of chronic hemolytic 
anemias arc hereditary spherocytosis, 
thalassemias and sickle cell anemia. 

Hemoglobin electrophoresis is essential 
for diagnosis of hemoglobinopathies. 
In beta thalassemia major, high level of 
hemoglobin F (above 50%) is usually 
present. 





62 



2. Idiopathic Thrombocytopenic Purpura (ITP) 







:•'•■-•:•" 



Ecchymotic patches 
on the abdomen 

Purpura is a small hemorrhage into 
the superficial layers of the skin and 
mucous membranes that produces 
areas of purple discoloration, which 
do not blanch on pressure. Minute 
spots of 1-2 mm in diameter are 
known as "peteckiae or petechial 
spots ".Larger areas of I -2 cm in 
diameterare known as "ecchymoses 
or ecchymotic patches'*, both lesions 
are frequently present together. 
In most eases, the skin of the trunk and limbs are the most commonly involved area. 
Bleeding is the main complication and it can be mild or severe. Bleeding gums and 
epistaxis are the most common while intracranial hemorrhage is the most serious. 

Idiopathic thrombocytopenia purpura (ITP) is the most common cause of 
purpura in children. The illness is mostly immune in origin and it is often preceded by a 
viral infection I - 4 weeks before the onset of illness. The onset is abrupt with purpura 
and may be bleeding. Laboratory diagnosis depends on the presence of severe 
thrombocytopenia (platelet count is usually below 20.000). Prognosis is excellent in 
most cases. Purpura and bleeding usually subside over 1-2 weeks. 
Persistence of purpura and thrombocytopenia for more than 2-3 weeks in an indication 
for bone marrow examination and leukemia or aplastic anemia should be excluded. 



Petechial spots 



Ecchymotic patches on the legs 





63 



3. Disseminated Intravascular Coagulation (DIC) 



i 






DIC or disseminated intravascular 
coagulation is a serious disease 
characterized by consumption of 
platelets and some coagulation 
factors (1,2, 5, 8) in a process of 
formation of minute intravascular 
clots. It occurs as a complication 
of another severe systemic illness. 
The main precipitating factors are 
septicemia, shock and acidosis. 
Gastroenteritis with dehydration, 
shock and acidosis is an ideal 
situation for DIC to develop. 

Clinically, the patient is critically 
sick and the features of the precipitating disease are well evident (as septicemia, shock, 
acidosis). The hematological manifestations of the disease include bleeding from 
puncture sites and surgical incisions, purpura (petechiae and ecchymoses) and necrotic 
skin patches (characteristic of DIC). Internal hemorrhage (including intracranial 
hemorrhage) may occur due to thrombocytopenia and severe coagulation defect (see 
also chickenpox and herpes simplex). 

Laboratory diagnosis depends on the presence of thrombocytopenia, severe coagulation 
defect (prolonged thrombin, prothrombin and partial thromboplastin times) and Fibrin 
degradation products (FDPs) in the peripheral blood. 

Prognosis is generally bad and it depends on the proper control of the precipitating 
factors and the extension of internal hemorrhage. 




Ecchymotic patches 



Necrotic skin patches 





64 



4. Henoch-Schoenlein Purpura 






Purpuric rash on 
buttocks and back 
of lower limbs 

Henoch-Schoenlein purpura 

is a vasculitis syndrome ol 

nonthrombocytopenic purpura, 

arthritis, abdominal pain and 

nephritis. Characteristic skin 

lesion is a purpuric rash 

involving mainly the back of 

tower limbs and buttocks but 

il may extend to involve the trunk and upper limbs. Arthritis occurs in two thirds of 

cases, affecting few large joints and remains for only few days. Gastrointestinal 

manifestations occur in 50% of cases. Colicky abdominal pain is the main feature and 

it may be associated with gastrointestinal hemorrhage (bleeding per rectum and may be 

hematemesis). Nephritis occurs in one third of cases and it may appear during the acute 

stage or lew weeks after recovery. Prognosis is generally excellent and most cases 

recover completely over few days or few weeks. There are no specific laboratory 

findings and the diagnosis is clinical. 












*tmmmimmmmtm 



— — ■ 



65 



5. Hemophilia 




Bruising and hemarthrosis 
of the left elbow joint 

Hemophilias are a group of 
inherited disorders that result from 
a defect in phase I coagulation 
There are 4 types that differ in 
incidence, mode of inheritance 
and severity of bleeding. 

Hemophilia ^(classic hemophilia) 

It is the most common type (80% of 

cases). It is an x-l inked disease 

caused by deficiency of factor 8 

(antihemophilic factor). The clinical severity depends on the level of factor 8 activity in 

plasma, f he most characteristic features of hemophilia A are spontaneous or traumatic 

hemorrhages which can be subcutaneous, intramuscular or within joints (hemarthrosis) 

In infants excessive bleeding may follow circumcision, but bleeding is usually not 

evident in the first year of life. After infancy, with the time the child begins to walk easy 

bruising and hemarthrosis become evident 

t^rZ?S) S deP " dS *" " thC ***** ° r e ro, °^ d P**« thromboplastin 

S??^/ 1 \ - <Chn , Stnias disease > is the W«id most common type of hemophilia 
(about IO/o of cases), it is an x-linked disease caused by factor 9 deficiency. Clinically 
it cannot be differentiated from hemophilia A. 



Intramuscular hematoma 
of the left calf muscle 




Hemarthrosis of the right 
ankle joint 





ENDOCRINAL 
DISORDERS 



1. Ambiguous genitalia. 

2. Hypothyroidism. 

3. Short stature. 

4. Precocious puberty. 






1. Ambiguous Genitalia 




Ambiguous genitalia is a genitalia in which 
the sex cannot be identified. It is a medical 
emergency requiring urgent and appropriate 
measures to identify the true sex. Parents 
can be told that the baby is either a "female 
with overdeveloped genitalia " or "male 

with underdeveloped genitalia". Birth 
certificate should not be filled out until the 
sex is identified. 

Ambiguous genitalia can result from one 
of3 possibilities:^ 

1. 46 XX- intersex (verilized female): 

The genitalia is ambiguous due to over- 
development by excess androgens (clitoral 
hypertrophy and labioscrotal fusion). 

Chromosomal analysis reveals XX and ultrasound genitogram reveals normal mullerian 
structures (vagina, cervix and uterus). The main causes are congenital adrenal 
hyperplasia and maternal virilization. Measurement of 17 ketosteroids in urine is useful 
in differentiation (elevated in congenital adrenal hyperplasia). 

2. 46 XY-intersex (undervtrilized male): The genitalia is ambiguous due to 
underdevelopment by androgen deficiency (small phallus and bifid scrotum). 
Chromosomal analysis reveals XY and ultrasound genitogram reveals absent or 
abnormal mullerian structure (vagina only without uterus). Hormonal studies and 
testicular biopsy are important to identify the responsible delect. The main causes are 
defects in testosterone synthesis or in testosterone action. 

3. True gonadal intersex: The genitalia 
is ambiguous due to failure of different- 
iation. Chromosomal analysis (genotype) 
reveals XX, XY or mosaicism. Pelvic 
ultrasound usually reveals some mullerian 
structures. Diagnosis is established by 
gonadal biopsy, which demonstrates 
the presence or both gonads (ovary in 
one side and testis on the other side or 
bilateral ovotestes). 




68 



2. Hypothyroidism 



Congenital hypothyroidism 

( tajgenital hypothyroidism is mostly caused 
by aplasia or hypoplasia of the thyroid gland 
(90% of cases). Defective synthesis of thyroid 
hormone and iodine deficiency are uncommon 
causes. The condition should be diagnosed 
early in neonatal period or early infancy 
before the development of mental retardation 
and coarse features (large head, coarse hair, 
low anterior hair line, swollen eyelids, 
depressed nasal bridge and thick protruded 
tongue). It is not useful to diagnose a classic 
case of cretinism with coarse features and 
menial retardation (opposite figure). 

Neonatal thyroid screening program is recently implemented in Egypt where all 
newborns are screened for hypothyroidism between the third and the 7th day of life A 
™! C *° P f 0btained b V heel P™ k W a Biter paper, and is analyzed for TSH and T4 
-11 I Slf value is > 20 micro unit/L with low or norma] 14 value, an immediate blood 
sample ,s withdrawn and reanalyzed lor T4 and TSH to confirm data obtained 1mm 
niter paper and treatment is immediately initiated. 

Treatment is by life long therapy with oral thyroid hormone. The dose is 10 microgram^ 
kg/ day at birth and in infancy, & 




Thyroid enlargement (Goiter) 



Acquired hypothyroidism 

Acquired hypothyroidism is mostly 
Caused by Hashimoto thyroiditis, 
which it is an autoimmune disease 
(circulating thyroid antibodies can be 
detected in the blood)The main 3 clinical 
presentations of acquired hypothyroidism 
are short stature, goiter and school 
underachievement. Presence of any of 
these presentations is an indication tor 

measurement of thyroid hormone 




69 



3. Short Stature 




Short stature is a height 
below the fifth percentile 
for age and sex. Causes can 
be classified into 2 groups 
(disproportionate and 
proportionate). 

1. Disproportionate short 

stature is caused by skeletal 
dysplasias causing short limbs 

as achondroplasia and osteo- 
genesis imperfecta (sec 
opposite page). 

2. Proportionate short stature is caused by 3 main groups: 

a) Normal variants: Genetic (familial) short stature and constitutional growth delay, 

* In genetic (familial) short stature, one parent ai least is short. Bone age is normal and 
puberty occurs at the usual age. The ultimate adult height is short or midway between 
the heights of both parents. 

* In constitutional growth delay, the height of both parents is normal but history of 
slow growth in childhood in other family members may be obtained, Bone age is 
delayed and puberty will be also delayed. 
Because of delayed bone age and 

Cushinoid face 
of prolonged corticosteroid therapy 



puberty, the predicted ultimate adult 
height is normal. 



b) Chronic systemic diseases: Chronic 
malnutrition, chronic cardiac disease, 
chronic respiratory disease or chronic 
renal failure. 

c) Endocrinal diseases: Hypothyroidism, 
growth hormone deficiency and excess 
glucocorticoids (Cushing syndrome). 
Prolonged corticosteroid therapy gives 
features similar to Cushing syndrome 
with facial edema (moon lace), 
hirsutism and growth failure. 




70 



Short Stature 




Achondroplasia 

Achndroplasia is an autosomal dominant 
disease characterized by clinical triad of 
short limbs, large head and normal trunk. 
The shortening of limbs is involving the 
proximal segments (the humerus and femur). 
Note also the forking of fingers and the 
exaggerated skin creases of limbs. 






Osteogenesis imperfecta 

It is an autosomal dominant disease 
characterized by excessive bone fragility, 
multiple Fractures (healing with angulated 
deformities) and blue sclera. Note the blue 
sclera and angulated deformities of the right 
humerus and both lower limbs. 




71 



4. Precocious Puberty 













True precocious puberty in 
male (enlarged penis and testes 
with pubic hair appearance and 
high gonadotropin level) 

Precocious puberty is the early appearance 
of secondary sexual characterrfefore 8 
years in girls or 9 years in boys. Secondary 
sexual characters are breast enlargement in 
girls and pubic and axillary hair in boys and 
girls. 

Clinical criteria for diagnosis are: 

* In males 

Enlarged testes (more than 2 cm in greatest length) before 9 years and/or enlarged penis 
(more than 7 cm in stretched length) before 10 years. 

* In females 

Breast enlargement before the age of 8 years, pubic or axillary hair before the age of 9 
years and/or menarche before the age of 10 years. 

a) In true precocious puberty, the gonadotropin level is high (gonadotropin dependant) 
and gonads are enlarged (testes in males, ovaries in females). Spermatogenesis occurs 
hi males and ovulation occurs in females. True precocious puberty is always isosexual. 

Precocious pseudopuberty in 
female (breast enlargement 
without ovulation and with 
low gonadotropin level) 

h) hi precocious pseudopuberty, the gonado- 
tropin is low (gonadotropin independent) 
and gonads do not enlarge. Spermatogenesis 
or ovulation does not occur. It can be 
either isosexual or heterosexual. 

c) In partial precocious puberty, only one 

isolated manifestation of puberty appears 

as breast enlargement (premature thelarche), 

pubic hair appearance (premature adrenarche) 

or menses (premature menarche). In all these 

conditions, other secondary sexual characters are absent and gonadotropins are low, 

72 





* .. 



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